Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779227
rs587779227
A 0.700 GeneticVariation CLINVAR Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. 27273229

2017

dbSNP: rs786201050
rs786201050
TG 0.700 GeneticVariation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017

dbSNP: rs267608122
rs267608122
A 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs587779227
rs587779227
A 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016

dbSNP: rs730881816
rs730881816
G 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs730881827
rs730881827
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs878853702
rs878853702
G 0.700 CausalMutation CLINVAR Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. 27443514

2016

dbSNP: rs193922343
rs193922343
T 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

dbSNP: rs267608121
rs267608121
ATCAG 0.700 CausalMutation CLINVAR The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer. 25307252

2015

dbSNP: rs267608121
rs267608121
ATCAG 0.700 CausalMutation CLINVAR Identification of germline genetic mutations in patients with pancreatic cancer. 26440929

2015

dbSNP: rs587779227
rs587779227
A 0.700 GeneticVariation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809

2015

dbSNP: rs587779227
rs587779227
A 0.700 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

dbSNP: rs587779227
rs587779227
A 0.700 GeneticVariation CLINVAR Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. 26552419

2015

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809

2015

dbSNP: rs267608121
rs267608121
ATCAG 0.700 CausalMutation CLINVAR Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 24440087

2014

dbSNP: rs267608122
rs267608122
A 0.700 GeneticVariation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014

dbSNP: rs267608122
rs267608122
A 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014

dbSNP: rs587779227
rs587779227
A 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014

dbSNP: rs63750119
rs63750119
A 0.700 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014

dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014

dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014

dbSNP: rs587779227
rs587779227
A 0.700 GeneticVariation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013

dbSNP: rs63749873
rs63749873
G 0.700 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013